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库欣综合征或肥胖症。一名10岁男孩双侧肾上腺增生。

Cushing's syndrome or obesity. Bilateral adrenal hyperplasia in a boy 10 years of age.

作者信息

Koelz A, Girard J

出版信息

Eur J Pediatr. 1976 Mar 8;121(4):237-46. doi: 10.1007/BF00443017.

Abstract

A rare case of the Cushing syndrome, due to bilateral adrenal hyperplasia is described. Because of generalized obesity, normal height, normal bone age and family history of obesity, a boy 10 years of age had at first been misdiagnosed as simple obesity. A reduction in height velocity, advancement of bone age and development of precocious pseudopuberty led to a more detailed biochemical investigation and to the correct diagnosis. The clinical picture can be misleading in the differential diagnosis of Cushing's disease versus simple obesity. From a comparison of reports on pediatric Cushing's syndrome, it is obvious that in most pediatric cases fat distribution differs from that of adult Cushing's syndromes. Stunted growth is reported to be more frequent, but normal and excessive height in Cushing's syndrome is not uncommon. In adrenal hyperplasia a retardation of bone age is usually expected. Interpretation of endocrine functions must take into account that simple obesity leads to secondary endocrinopathies, which are similar to the findings in Cushing's syndromes. Plasma cortisol at midnight and 12 hourly excretion of free cortisol in urine as well as overnight Dexamethasone suppression of morning plasma cortisol are judged to be good screening parameters. Plasma ACTH assays can help in the initial diagnosis and are mandatory during the follow up for an early detection of Nelson's syndrome.

摘要

本文描述了一例因双侧肾上腺增生导致的库欣综合征罕见病例。一名10岁男孩因全身肥胖、身高正常、骨龄正常且有肥胖家族史,起初被误诊为单纯性肥胖。身高增长速度减慢、骨龄提前以及假性性早熟的出现促使进行了更详细的生化检查并得出了正确诊断。在库欣病与单纯性肥胖的鉴别诊断中,临床表现可能会产生误导。通过比较小儿库欣综合征的报告可以明显看出,在大多数小儿病例中,脂肪分布与成人库欣综合征不同。据报道,生长发育迟缓更为常见,但库欣综合征患者身高正常和过高的情况也并不罕见。在肾上腺增生中,通常预期骨龄会延迟。在内分泌功能的解读中必须考虑到,单纯性肥胖会导致继发性内分泌病变,这些病变与库欣综合征的表现相似。午夜血浆皮质醇、每12小时尿游离皮质醇排泄量以及过夜地塞米松对晨血浆皮质醇的抑制作用被认为是良好的筛查参数。血浆促肾上腺皮质激素(ACTH)检测有助于初步诊断,并且在随访期间对于早期发现尼尔森综合征是必不可少的。

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